Varaico: Literature-Extracted Genetic Variants

Gene:LIG4
Variant:p.K283E
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LIG4

NM_206937.2:p.K283E

Associated Papers

Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency.

Jauch AJ et al.

The Journal of Allergy and Clinical Immunology, 2023

Digenic inheritance of human primary microcephaly delineates centrosomal and non-centrosomal pathways.

Duerinckx S et al.

Human Mutation, 2020

DNA ligase IV deficiency: Immunoglobulin class deficiency depends on the genotype.

Dard R et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."